About OrphanXchange

Rationale of the project

Over 20 millions Europeans are affected by rare diseases. Nearly all rare diseases are life threatening or chronically debilitating disorders and most of them are genetic. Until now, 5,000 to 8,000 phenotypes have been described, and 2,000 of them are assigned to one or several genes.

Patients suffering from such conditions should have access to the same quality of treatment as other patients. The very small number of patients affected by a specific rare disease results in of research effort fragmentation and limited potential for commercial development of medicinal products. Therefore it is essential to act at an international level.

The EU gives rare diseases a priority within the new Community Public Health Framework. The fifth framework programmes for research and technological development have supported research on rare diseases, which were intended to promote the establishment of cross-national cooperation. The EU Regulation on Orphan Medicinal Products (OMP) was adopted in order to stimulate prevention and development of new diagnostic, and therapies products for rare diseases.

In November 2002, the USA passed the Rare Disease Act of 2002 (Public Law 107-280) to support regional centres of excellence for clinical research into, training in, and demonstration of diagnostic, preventive, control, and treatment methods for rare diseases. This law provides the legislated mandate for this solicitation to address the needs of rare disease clinical research. An NIH Office of Rare Diseases Special Emphasis Panel, composed of academic scientists, representatives of voluntary patient support groups, pharmaceutical, biotechnology and device industries, and other Federal agencies, made recommendations on the special research and health care issues posed by rare diseases.

In this context, the objective of OrphanXchange is to offer services to promising research projects. Ultimately, the goal is to convert scientific developments into therapies as quickly as possible and to ensure timely access to innovative practices, tools and medicines.

Rare diseases offer promising opportunities for scientific advancement. Many rare diseases represent single gene defects whose abnormalities in specific genes or proteins offer insight into normal biological function. Other rare diseases are complex resulting from the interaction of two or more genes. Understanding the pathogenesis of rare diseases may advance our understanding of more common medical disorders. Despite the advances and opportunities for research in rare diseases, there remain difficulties in clinical diagnosis and management. Diagnosis may be either straightforward with well-described phenotypes, or difficult with poorly defined criteria. There is insufficient characterization of the course of many rare diseases. Treatment can be equally challenging, with many questions concerning appropriate clinical management. Rare diseases pose unique challenges to identification and coordination of resources and expertise for small groups dispersed over wide geographic areas. Rare diseases research requires scientific collaboration from multiple disciplines sharing research resources and patients. Rigorous characterization and longitudinal assessment is needed to facilitate discovery of biomarkers of disease risk, disease activity, and response to therapy.

It is now essential to set up scientific and technological platforms to stimulate research, development and market supply of appropriate diagnostic kits and medicinal products, to prevent, diagnose and treat rare diseases .

OrphanPlatform is particularly relevant in two areas:

It addresses the needs of disease-specific research networks by bridging the upstream needs of available data with the downstream issues faced by clinical researchers . OrphanXchange aims at building synergies with and acts as a facilitator for other important research and development projects being considered in the fields of rare disorders, genomic and post-genomic, gene and cell therapies.

OrphanXchange is also expected to benefit directly to the European industry and particularly to small and medium enterprises (SMEs), which account for 80% of OMP applications submitted to EMEA. The OrphanXchange platform providing is cost-effective services to these industrial partners.

Description of the services

OrphanXchange is a market place of academic research projects and of potential orphan designations. It includes a database of partnership opportunities, freely accessible to all stakeholders, and a tool to network industry with academic // potential partners.

Any user can access a list of projects matching their query. Registration is required to obtain detailed information and to request a contact with the researcher. Registered users are automatically informed of new releases of data in the database.

OrphanXchange is accessible to all stakeholders but it is specifically designed to meet the needs of industry. All projects registered in the OrphanXchange database are academic projects for which researchers and/or institutions are looking for an industrial partner.

OrphanXchange is a free-of-charge service. It will not claim any right on products developed due to a partnership established through OrphanXchange.

OrphanXchange has got an approval from the French data protection committee (Commission Nationale de l'Informatique et des Libertés; CNIL) on 5 May 2004. Whenever somebody's name is mentioned, this person has given his/her authorization to be quoted. Persons registered in the database can access their data at anytime, can modify them or suppress them.

OrphanXchange operates in collaboration with Orphanet, database of rare diseases encompassing an encyclopaedia and a directory of services in twenty European countries. Orphanet is the appropriate tool to access the list of on-going research activities in the field of rare diseases, as OrphanXchange only lists projects for which the researcher is looking for a partnership with industry.

Projects displayed in the database are identified through three ways:

Partners of OrphanXchange

The concept of OrphanXchange has been developed by the Orphanet team in Paris, with the support of a working group at LEEM (Groupe permanent Maladies Rares - Médicaments Orphelins) which is co-chaired by representatives of industry, patients' umbrella organisation, and science.

A pilot project has been financially supported by INSERM and LEEM in 2003.

Two French organisations (INSERM and LEEM) and the European Commission, DG Research (contract OrphanPlatform) support the current project.

OrphanXchange is operated by Orphanet (INSERM SC11).

Warning

The establishment and use of OrphanXchange professional directory is subject to the current French laws related to data processing of personal data (Loi 78-17) and has obtained favourable decision 517702 of the National Data Processing and Liberties Commission. The capture of personal data supplied by this software in order to constitute another database of personal data (for example for commercial or advertising use) is strictly prohibited for all countries.